Variant report

Variant	rs58012005
Chromosome Location	chr7:4761020-4761021
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:4759871..4762762-chr7:4764322..4767254,4	MCF-7	breast:
2	chr7:4760865..4762591-chr7:4767283..4769711,2	MCF-7	breast:
3	chr7:4731749..4733486-chr7:4760539..4762564,2	MCF-7	breast:
4	chr7:4757907..4759766-chr7:4760411..4762104,2	MCF-7	breast:
5	chr7:4760787..4762852-chr7:4770341..4773227,2	MCF-7	breast:
6	chr7:4753897..4755889-chr7:4760582..4763452,2	MCF-7	breast:
7	chr7:4760150..4762017-chr7:4764864..4767459,2	K562	blood:
8	chr7:4760930..4762587-chr7:4814124..4816927,2	MCF-7	breast:
9	chr7:4744293..4746103-chr7:4760700..4762874,2	K562	blood:
10	chr7:4752847..4756783-chr7:4756924..4763457,6	MCF-7	breast:
11	chr7:4753274..4754923-chr7:4760587..4763263,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000242802	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10260874	0.88[AMR][1000 genomes]
rs28476654	0.88[AMR][1000 genomes]
rs4074260	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4724036	0.91[AMR][1000 genomes]
rs4724037	0.91[AMR][1000 genomes]
rs59325270	0.83[AFR][1000 genomes]
rs60440111	0.86[AFR][1000 genomes]
rs73303381	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7807827	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529538	chr7:4509189-5151503	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv508442	chr7:4623264-4769628	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
6	nsv887377	chr7:4730535-4862259	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv887378	chr7:4730535-4929721	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv887379	chr7:4749527-4828593	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv887380	chr7:4760124-4929721	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4730800-4761600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr7:4743800-4763600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr7:4747400-4764600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:4749000-4763600	Weak transcription	HUVEC	blood vessel
5	chr7:4751600-4761800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:4752800-4763800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr7:4752800-4764200	Weak transcription	Colonic Mucosa	Colon
8	chr7:4752800-4764400	Weak transcription	Small Intestine	intestine
9	chr7:4753000-4763800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:4753200-4762000	Weak transcription	A549	lung
11	chr7:4753400-4761400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:4753400-4761800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr7:4753400-4774800	Weak transcription	K562	blood
14	chr7:4753800-4764000	Strong transcription	Fetal Intestine Small	intestine
15	chr7:4754200-4763800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr7:4754400-4763600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr7:4755200-4761600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr7:4755200-4764000	Weak transcription	Brain Germinal Matrix	brain
19	chr7:4755200-4764200	Weak transcription	HSMM	muscle
20	chr7:4755400-4764200	Weak transcription	NHEK	skin
21	chr7:4755600-4761600	Weak transcription	NH-A	brain
22	chr7:4755600-4762000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:4755600-4764200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr7:4755600-4764200	Weak transcription	Stomach Mucosa	stomach
25	chr7:4755800-4762200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr7:4755800-4762200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr7:4755800-4762600	Weak transcription	Colon Smooth Muscle	Colon
28	chr7:4756400-4761800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr7:4756400-4762200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr7:4756400-4762800	Weak transcription	Fetal Lung	lung
31	chr7:4756400-4776800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:4757000-4761800	Weak transcription	Brain Hippocampus Middle	brain
33	chr7:4757000-4762000	Weak transcription	Brain Substantia Nigra	brain
34	chr7:4757200-4761600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr7:4757200-4762000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:4757200-4762200	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr7:4757200-4778800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr7:4757400-4761600	Weak transcription	Brain Angular Gyrus	brain
39	chr7:4757400-4761800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr7:4757400-4762000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr7:4757400-4762400	Weak transcription	Brain Anterior Caudate	brain
42	chr7:4757400-4764400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr7:4757600-4762200	Weak transcription	Placenta	Placenta
44	chr7:4758000-4761400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:4758000-4761600	Weak transcription	Gastric	stomach
46	chr7:4758000-4761600	Weak transcription	Pancreas	Pancrea
47	chr7:4758000-4761600	Weak transcription	Spleen	Spleen
48	chr7:4758000-4762000	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr7:4758000-4762800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr7:4758000-4764200	Weak transcription	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links